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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Academic Journal
Marwan Nashabat; Nasrinsadat Nabavizadeh; Hilal Pırıl Saraçoğlu; Burak Sarıbaş; Şahin Avcı; Esra Börklü; Emmanuel Beillard; Elanur Yılmaz; Seyide Ecesu Uygur; Cavit Kerem Kayhan; Luca Bosco; Zeynep Bengi Eren; Katharina Steindl; Manuela Friederike Richter; Guney Bademci; Anita Rauch; Zohreh Fattahi; Maria Lucia Valentino; Anne M. Connolly; Angela Bahr; Laura Viola; Anke Katharina Bergmann; Maria Eugenia Rocha; LeShon Peart; Derly Liseth Castro-Rojas; Eva Bültmann; Suliman Khan; Miriam Liliana Giarrana; Raluca Ioana Teleanu; Joanna Michelle Gonzalez; Antonella Pini; Ines Sophie Schädlich; Katharina Vill; Melanie Brugger; Stephan Zuchner; Andreia Pinto; Sandra Donkervoort; Stephanie Ann Bivona; Anca Riza; Undiagnosed Diseases Network; Ioana Streata; Dieter Gläser; Carolina Baquero-Montoya; Natalia Garcia-Restrepo; Urania Kotzaeridou; Theresa Brunet; Diana Anamaria Epure; Aida Bertoli-Avella; Ariana Kariminejad; Mustafa Tekin; Sandra von Hardenberg; Carsten G. Bönnemann; Georg M. Stettner; Ginevra Zanni; Hülya Kayserili; Zehra Piraye Oflazer; Nathalie Escande-Beillard
Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)
Academic Journal
Corina-Marcela Rus; Thomas Weissensteiner; Catarina Pereira; Iuliana Susnea; Bright D. Danquah; Galina Morales Torres; Maria Eugenia Rocha; Claudia Cozma; Deepa Saravanakumar; Sumanth Mannepalli; Krishna K. Kandaswamy; Sebastiano Di Bucchianico; Ralf Zimmermann; Arndt Rolfs; Peter Bauer; Christian Beetz
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Academic Journal
Emir Zonic; Mariana Ferreira; Luba M. Pardo; Javier Martini; Maria Eugenia Rocha; Ruxandra Aanicai; Natalia Ordonez-Herrera; Deepa Saravanakumar; Ligia S. Almeida; Inês C. Fernandes; Nishtha Gulati; Sumanth Mannepalli; Amela Hercegovac; Ruslan Al-Ali; Catarina Pereira; Omid Paknia; Uros Hladnik; Peter Bauer; Jorge Pinto Basto; Aida M. Bertoli-Avella
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100833- (2023)
Academic Journal
Erin Janssen; Zachary Peters; Mohammed F. Alosaimi; Emma Smith; Elena Milin; Kelsey Stafstrom; Jacqueline G. Wallace; Craig D. Platt; Janet Chou; Yasmeen S. El Ansari; Tariq Al Farsi; Najim Ameziane; Ruslan Al-Ali; Maria Calvo; Maria Eugenia Rocha; Peter Bauer; Nouriya Abbas Al-Sannaa; Nashat Faud Al Sukaiti; Abdullah A. Alangari; Aida M. Bertoli-Avella; Raif S. Geha
The Journal of Clinical Investigation, Vol 132, Iss 20 (2022)
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[AR] Maria Eugenia Rocha
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